Homocystinuria, cbID type, variant 1

Common Name(s)

Homocystinuria, cbID type, variant 1

Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT; {609058}) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR; {156570}). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC ({277400}), cblD, and cblF ({277380}).
Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' ({251000}), caused by mutation in the MUT gene on chromosome 6p21; MMA cblA ({251100}), caused by mutation in the MMAA gene ({607481}) on 4q31; and MMA cblB ({251110}), caused by mutation in the MMAB gene ({607568}) on 12q24. Another form of isolated MMA ({613646}) can be caused by defect in the transcobalamin receptor (CD320; {606475}).

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Finding the right clinical trial for Homocystinuria, cbID type, variant 1 can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.